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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 4-158706270-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=158706270&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 158706270,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000511912.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1367C>G",
"hgvs_p": "p.Pro456Arg",
"transcript": "NM_004453.4",
"protein_id": "NP_004444.2",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 617,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": "ENST00000511912.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1367C>G",
"hgvs_p": "p.Pro456Arg",
"transcript": "ENST00000511912.6",
"protein_id": "ENSP00000426638.1",
"transcript_support_level": 1,
"aa_start": 456,
"aa_end": null,
"aa_length": 617,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": "NM_004453.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "n.337C>G",
"hgvs_p": null,
"transcript": "ENST00000506422.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1367C>G",
"hgvs_p": "p.Pro456Arg",
"transcript": "ENST00000684622.1",
"protein_id": "ENSP00000507546.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 618,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1316C>G",
"hgvs_p": "p.Pro439Arg",
"transcript": "ENST00000684505.1",
"protein_id": "ENSP00000508237.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 600,
"cds_start": 1316,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1477,
"cdna_end": null,
"cdna_length": 4155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1226C>G",
"hgvs_p": "p.Pro409Arg",
"transcript": "NM_001281737.2",
"protein_id": "NP_001268666.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 570,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1226C>G",
"hgvs_p": "p.Pro409Arg",
"transcript": "ENST00000307738.5",
"protein_id": "ENSP00000303552.5",
"transcript_support_level": 2,
"aa_start": 409,
"aa_end": null,
"aa_length": 570,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1344,
"cdna_end": null,
"cdna_length": 1903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1226C>G",
"hgvs_p": "p.Pro409Arg",
"transcript": "ENST00000682456.1",
"protein_id": "ENSP00000508240.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 570,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1223C>G",
"hgvs_p": "p.Pro408Arg",
"transcript": "ENST00000683483.1",
"protein_id": "ENSP00000507719.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 569,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 4090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1184C>G",
"hgvs_p": "p.Pro395Arg",
"transcript": "NM_001281738.1",
"protein_id": "NP_001268667.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 556,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1184C>G",
"hgvs_p": "p.Pro395Arg",
"transcript": "ENST00000683305.1",
"protein_id": "ENSP00000508043.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 556,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 4098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1184C>G",
"hgvs_p": "p.Pro395Arg",
"transcript": "ENST00000684036.1",
"protein_id": "ENSP00000507276.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 556,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 4425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1184C>G",
"hgvs_p": "p.Pro395Arg",
"transcript": "ENST00000684627.1",
"protein_id": "ENSP00000507471.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 556,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1936,
"cdna_end": null,
"cdna_length": 4614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1082C>G",
"hgvs_p": "p.Pro361Arg",
"transcript": "ENST00000684641.1",
"protein_id": "ENSP00000507642.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 522,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 3949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.872C>G",
"hgvs_p": "p.Pro291Arg",
"transcript": "ENST00000683751.1",
"protein_id": "ENSP00000506944.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 452,
"cds_start": 872,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 3824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Pro65Arg",
"transcript": "ENST00000682734.1",
"protein_id": "ENSP00000507860.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 226,
"cds_start": 194,
"cds_end": null,
"cds_length": 681,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Pro65Arg",
"transcript": "ENST00000684129.1",
"protein_id": "ENSP00000507174.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 226,
"cds_start": 194,
"cds_end": null,
"cds_length": 681,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 3723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "n.2903C>G",
"hgvs_p": null,
"transcript": "ENST00000681978.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "n.2399C>G",
"hgvs_p": null,
"transcript": "ENST00000682178.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 5077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "n.*1067C>G",
"hgvs_p": null,
"transcript": "ENST00000682345.1",
"protein_id": "ENSP00000508122.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "n.1698C>G",
"hgvs_p": null,
"transcript": "ENST00000682452.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "n.2150C>G",
"hgvs_p": null,
"transcript": "ENST00000682566.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "n.1679C>G",
"hgvs_p": null,
"transcript": "ENST00000682613.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
}
],
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"dbsnp": "rs398124152",
"frequency_reference_population": 0.000001371253,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137125,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9449182748794556,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.919,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9085,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000511912.6",
"gene_symbol": "ETFDH",
"hgnc_id": 3483,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1367C>G",
"hgvs_p": "p.Pro456Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}